Adults with X-linked hypophosphatemia (XLH) report experiences of chronic pain, fear of falling, and lack of credence given by healthcare providers. To counterbalance these obstacles, patients use resilience, tenacity and creative approaches, a small study has found.
The study, “Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study” was published in the Journal of Patient-Centered Research and Reviews.
XLH is caused by mutations in the PHEX gene, which provides instructions for making an enzyme that regulates the blood levels of a hormone known as FGF23. Abnormal FGF23 activity impairs the ability of the kidneys to reabsorb phosphate into the blood (also called phosphate wasting).
Although bone abnormalities and other symptoms start in childhood, the impact of XLH extends into adulthood and can limit daily activities through progressive complications such as mineralizing enthesopathies (bony projections that form along joint margins), osteophytes (bone spurs), and dental abscesses.
Researchers at Quinnipiac University in Connecticut assessed the experiences of adults with XLH. Their goal was to investigate why and how patients engage with healthcare providers, and to identify common themes that relate to and prevent effective care.
The study included nine people with XLH, ages 43 to 65. Median age at diagnosis was 4.
The first main theme reported by participants was pain. All patients had persistent — at times debilitating — pain affecting every aspect of their lives, including career path, age of retirement, and family planning.
Pain was perceived to come from various sources, particularly bone, muscle, joint, and soft tissue. The source of pain varied over the course of the disorder.
The acceptance or tolerance of pain by XLH patients was found, at times, to result in the minimization of serious causes of pain, such as fractures. In fact, two of six participants with fractures during the study were unaware of this complication.
Fear of falling
The second main theme was fear of falling, which was seen to gradually develop over time, often after a fall that resulted in bone fracture.
Patients who reported falls associated with fractures were unsure if the fractures resulted from the fall or if they fell due to a spontaneous fracture.
Fear of falling was found to stop participants from attending social or work gatherings, interfere with daily activities, and/or promote an early retirement.
In general, patients reported the greatest confidence in their abilities when at home, and the lowest when in public. Traveling, even locally, was perceived as worrisome. The more broken bones as a result of a fall, the lower the patients’ confidence score.
However, patients’ anxiety scores measured by the depression anxiety stress scales (DASS) were within the normal range, with fear of falling and of further limitation in the future being the main reasons for anxiety.
Perceptions of providers
The third main theme was lack of credence by healthcare professionals, who were perceived to be unwilling to appreciate patients’ self-reported symptoms or concerns.
Lack of credence had been experienced by all participants from multiple members of their healthcare team, who challenged their reported symptoms or questioned their diagnosis of XLH at different points during the course of the disease.
For nearly all patients, a number of attempts were needed to find healthcare providers either familiar with XLH or who were willing to learn about the condition. Although patients expressed concerns about taking advice from providers unfamiliar with XLH, they were willing to “stick with” practitioners if they showed willingness to learn.
Participants selected which symptoms to report at any given visit, so the provider would acknowledge and believe their concerns without being overwhelmed. Patients were concerned about being seen as inappropriately seeking medication when reporting pain.
Patients also were perceived as unreliable narrators due to changing reports of sites or types of pain, particularly when there was a time lag between appointment scheduling and visit.
This led to inappropriate questioning by healthcare providers and hesitation to treat, patients said. They reported feeling frustration, anger, blame, and an increasing lack of confidence in the medical provider or team.
As a result of these experiences, patients underreported their symptoms, began to doubt the accuracy of their own symptoms and narrative, and felt unsure how to best prioritize reporting pain.
Lack of credence by healthcare providers was the most detrimental and disturbing theme to the participants.
“Pain management for individuals with chronic pain conditions is complex and requires empathy, trust, contracting, and judicious use of pharmaceutical and nonpharmaceutical approaches,“ the researchers wrote.
Despite challenges, participants responded with resilience, tenacity, and creative approaches to cope with XLH.
Despite a disability of approximately 24% — based on the Disabilities of the Arm, Shoulder, and Hand questionnaire — patients scored in the mid-to-high range in ability to perform skills (mean score 6.9 of 10) and in performance satisfaction with these skills (mean 7.3 of 10), measured by the Canadian Occupational Performance Measure.
Although XLH affected quality of life, patients reported an overall positive emotional well-being and had normal or mild DASS scores for depression, anxiety, and stress.
However, “while the demonstrated resilience and ability to continuously adapt is noteworthy, study participants all reported lack of referrals for [occupational therapy] as adults because they were perceived as ‘dealing with it all,'” the scientists wrote
“This disconnect with providers may result in underutilization of available services and therapies and less adequate management of XLH,” they added. Overall, “appropriate referrals, as well as provider awareness and understanding of the diagnosis and implications of XLH in adulthood, are key.”
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